Canonical Allele Identifier: CA2809757562

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197162_50197163insTTCCC , CM000679.2:g.50197162_50197163insTTCCC	GRCh38
NC_000017.10:g.48274523_48274524insTTCCC , CM000679.1:g.48274523_48274524insTTCCC	GRCh37
NC_000017.9:g.45629522_45629523insTTCCC	NCBI36
NG_007400.1:g.9478_9479insGGAAG , LRG_1:g.9478_9479insGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.750+18_750+19insGGAAG MANE Select	ENSP00000225964.6:n.750+18_750+19insGGAAG
ENST00000225964.9:c.750+18_750+19insGGAAG	ENSP00000225964.5:n.750+18_750+19insGGAAG
ENST00000495677.1:n.477+18_477+19insGGAAG
NM_000088.3:c.750+18_750+19insGGAAG , LRG_1t1:c.750+18_750+19insGGAAG	NP_000079.2:n.750+18_750+19insGGAAG
XM_005257058.3:c.750+18_750+19insGGAAG	XP_005257115.2:n.750+18_750+19insGGAAG
XM_005257059.3:c.750+18_750+19insGGAAG	XP_005257116.2:n.750+18_750+19insGGAAG
XM_011524341.1:c.750+18_750+19insGGAAG	XP_011522643.1:n.750+18_750+19insGGAAG
XM_005257058.4:c.750+18_750+19insGGAAG	XP_005257115.2:n.750+18_750+19insGGAAG
XM_005257059.4:c.750+18_750+19insGGAAG	XP_005257116.2:n.750+18_750+19insGGAAG
NM_000088.4:c.750+18_750+19insGGAAG MANE Select	NP_000079.2:n.750+18_750+19insGGAAG